Sugi Variant

Sugi Variant/KRT16

KRT16 — 176 ClinVar variants

All ClinVar germline KRT16 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 70 flagged for review →

15 Pathogenic · 2 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 9 Conflicting · 18 Benign · 7 Benign/Likely benign · 48 Likely benign · 71 Uncertain significance

Full KRT16 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 70

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 7

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 40

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 23

The independent predictors disagree with each other — read with care.

All KRT16 variants

Pathogenic 15

Pathogenic/Likely pathogenic 2

  • p.Leu124His Multiple submitters palmoplantar keratoderma, nonepidermolytic, focal 1
  • p.Met121Thr Multiple submitters Ichthyosis and erythrokeratoderma

Likely pathogenic 6

Conflicting classifications of pathogenicity 9

Benign 18

Benign/Likely benign 7

Likely benign 48

Uncertain significance 71